H. Fassihi

发表

A. Lehmann, H. Fassihi, Isabel Garrood, 2018, DNA Repair Disorders.

Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.

J. McGrath, A. Paller, S. Ersoy-Evans, 2006, Journal of the American Academy of Dermatology.

Transient bullous dermolysis of the newborn in three generations

J. McGrath, H. Fassihi, V. Wessagowit, 2005, The British journal of dermatology.

Prenatal diagnosis for severe inherited skin disorders: 25 years' experience

K. Nicolaides, C. Rodeck, K. Nicolaides, 2006, The British journal of dermatology.

Transcription restores DNA repair to heterochromatin, determining regional mutation rates in cancer genomes.

Nam Huh, Elizabeth Purdom, Andrew J Blumberg, 2014, Cell reports.

Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.

A. Utani, D. Pilz, K. Yoshiura, 2013, American journal of human genetics.

Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa

J. McGrath, H. Fassihi, J. Mellerio, 2005, Clincal and Experimental Dermatology.

Comparison of Narrowband UV-B With Psoralen–UV-A Phototherapy for Patients With Early-Stage Mycosis Fungoides: A Systematic Review and Meta-analysis

K. Phan, H. Fassihi, V. Ramachandran, 2019, JAMA dermatology.

The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report

Julius O. B. Jacobsen, Robert W. Taylor, Eleanor F. Dewhurst, 2021, The New England journal of medicine.

Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect

A. Lehmann, P. Giunti, H. Fassihi, 2016, Proceedings of the National Academy of Sciences.

British Association of Dermatologists and British Photodermatology Group guidelines for narrowband ultraviolet B phototherapy 2022 *

S. Ibbotson, H. Fassihi, M. Hashme, 2022, The British journal of dermatology.

Spotlight on ‘xeroderma pigmentosum’

H. Fassihi, 2012, Photochemical & Photobiological Sciences.

Patients with xeroderma pigmentosum complementation groups C, E and V do not have abnormal sunburn reactions

A. Lehmann, H. Fassihi, R. Sarkany, 2013, The British journal of dermatology.

Preimplantation genetic diagnosis of skin fragility–ectodermal dysplasia syndrome

J. McGrath, H. Fassihi, S. Pickering, 2006, The British journal of dermatology.

A Distinct Genotype of XP Complementation Group A: Surprisingly Mild Phenotype Highly Prevalent in Northern India/Pakistan/Afghanistan.

P. Norris, I. Frayling, A. Lehmann, 2016, Journal of Investigative Dermatology.

Analysis of Skin Cancers from Xeroderma Pigmentosum Patients Reveals Heterogeneous UV-Induced Mutational Profiles Shaped by DNA Repair

Ismael Padioleau, C. Menck, Pierre Laplante, 2022, bioRxiv.

No evidence that human papillomavirus is responsible for the aggressive nature of recessive dystrophic epidermolysis bullosa-associated squamous cell carcinoma.

J. McGrath, C. Proby, H. Pfister, 2010, The Journal of investigative dermatology.

Xeroderma pigmentosum is a definite cause of Huntington's disease‐like syndrome

A. Lehmann, H. Garcia-Moreno, P. Giunti, 2017, Annals of clinical and translational neurology.

Complete maternal isodisomy of chromosome 3 in a child with recessive dystrophic epidermolysis bullosa but no other phenotypic abnormalities.

J. McGrath, H. Fassihi, J. Mellerio, 2006, The Journal of investigative dermatology.

Proof of principle and first cases using preimplantation genetic haplotyping--a paradigm shift for embryo diagnosis.

Peter Braude, Stephen Abbs, Hiva Fassihi, 2006, Reproductive biomedicine online.

Paediatric solar urticaria: a case series

H. Fassihi, D. Mcgibbon, A. Fityan, 2018, The British journal of dermatology.

Photodiagnostic services in the UK and Republic of Ireland: a British Photodermatology Group Workshop Report

S. Ibbotson, H. Fassihi, R. Sarkany, 2021, Journal of the European Academy of Dermatology and Venereology : JEADV.

Chronic actinic dermatitis: successful treatment with psoralen–ultraviolet A photochemotherapy

H. Fassihi, R. Sarkany, L. Novaković, 2018, The British journal of dermatology.

Pediatric Autoimmune Bullous Disease: A Literature Review and Update on Management.

H. Fassihi, Rosalind Ashton, 2022, Pediatrics in review.

Whole-genome sequencing of patients with rare diseases in a national health system

Keith W. Muir, William J. Astle, Mark I. McCarthy, 2020, Nature.

Unusual molecular findings in Kindler syndrome

J. McGrath, H. Fassihi, C. Pourreyron, 2007, The British journal of dermatology.

Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression.

J. McGrath, I. Leigh, H. Fassihi, 2007, The Journal of investigative dermatology.

Prenatal diagnosis of epidermolysis bullosa.

Hiva Fassihi, J. McGrath, H. Fassihi, 2010, Dermatologic clinics.

Single cell PCR amplification of microsatellites flanking the COL7A1 gene and suitability for preimplantation genetic diagnosis of Hallopeau-Siemens recessive dystrophic epidermolysis bullosa.

J. McGrath, H. Fassihi, P. Renwick, 2006, Journal of dermatological science.

Dramatic response of metastatic cutaneous angiosarcoma to an immune checkpoint inhibitor in a patient with xeroderma pigmentosum: whole-genome sequencing aids treatment decision in end-stage disease

S. Nik-Zainal, H. Davies, A. Degasperi, 2019, Cold Spring Harbor molecular case studies.

Pathogenesis of solar urticaria: Classic perspectives and emerging concepts

J. McGrath, H. Fassihi, R. Sarkany, 2021, Experimental dermatology.

Hydroa vacciniforme-like lymphoproliferative disorder: an EBV disease with a low risk of systemic illness in Caucasians.

F. Collins, T. Myers, E. Jaffe, 2019, Blood.

Congenital erythropoietic porphyria: a case in which symptoms were precipitated by an unrelated anaemia

H. Fassihi, R. Sarkany, A. Verma, 2014, The British journal of dermatology.

Whole-genome sequencing of patients with rare diseases in a national health system

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

Congenital erythropoietic porphyria: mild presentation with late onset associated with a mutation in the UROS gene promoter sequence

H. Fassihi, R. Sarkany, A. Fityan, 2016, Clinical and experimental dermatology.

Primary and secondary intralymphatic histiocytosis.

H. Fassihi, F. Lewis, P. Norris, 2014, Journal of the American Academy of Dermatology.

Xeroderma pigmentosum: overview of pharmacology and novel therapeutic strategies for neurological symptoms

A. Lehmann, P. Giunti, H. Fassihi, 2019, British journal of pharmacology.

Target proteins in inherited and acquired blistering skin disorders

J. McGrath, H. Fassihi, J. Mellerio, 2006, Clinical and experimental dermatology.

UVA 1 Phototherapy in the Management of Sclerodermatous Graft-Versus-Host Disease ( GVHD ) : a report of two cases

J. Scarisbrick, K. Iqbal, H. Fassihi, 2013 .

Uva1 Phototherapy in the Management of Sclerodermatous Graft-Versus-Host Disease (Gvhd): a report of two cases / Uva1 fototerapija u lečenju sklerodermatoznog oblika hronične Gvhd: Prikaz dva slučaja

J. Scarisbrick, K. Iqbal, H. Fassihi, 2009 .

Prenatal diagnosis of Herlitz junctional epidermolysis bullosa in nonidentical twins

H. Fassihi, J. Mellerio, G. Mason, 2005, Clinical and experimental dermatology.

The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome

A. Lehmann, M. Kinali, H. Fassihi, 2023, Pediatric neurology.

Neonatal diagnosis of Kindler syndrome.

J. McGrath, H. Fassihi, J. Mellerio, 2005, Journal of dermatological science.

Kindler syndrome: a new mutation and new diagnostic possibilities.

J. McGrath, H. Fassihi, J. Fitzpatrick, 2006, Archives of dermatology.

A New Mutation and New Diagnostic Possibilities

J. McGrath, H. Fassihi, J. Fitzpatrick, 2017 .

An Indian child with Kindler syndrome resulting from a new homozygous nonsense mutation (C468X) in the KIND1 gene

J. McGrath, M. Kabra, H. Fassihi, 2005, Clinical and experimental dermatology.

Bilateral cochlear implantation in a young patient with xeroderma pigmentosum (XP-D) and progressive sensorineural hearing loss—How to do it?

H. Fassihi, P. Achar, H. Woodun, 2022 .

A rare genetic disorder provides insights into mechanisms of early-onset neurodegeneration

C. Bakal, S. Nik-Zainal, A. Degasperi, 2023, medRxiv.

Thalidomide in the management of epidermolysis bullosa pruriginosa

H. Fassihi, J. Mellerio, J. McGrath, 2005, The British journal of dermatology.

Genomic mutation landscape of skin cancers from DNA repair-deficient xeroderma pigmentosum patients

Ismael Padioleau, C. Menck, Pierre Laplante, 2023, Nature communications.

Single nucleotide polymorphism in a commonly utilized LAMB3 primer sequence: implications for mutation detection and haplotype analysis in junctional epidermolysis bullosa.

J. McGrath, H. Fassihi, V. Wessagowit, 2006, Journal of dermatological science.

Development and successful clinical application of preimplantation genetic haplotyping for Herlitz junctional epidermolysis bullosa

J. McGrath, H. Fassihi, P. Braude, 2010, The British journal of dermatology.

Molecular analysis directs the prognosis, management and treatment of patients with xeroderma pigmentosum.

A. Lehmann, H. Fassihi, 2020, DNA repair.

A ‘handy’ indicator of infection

H. Fassihi, K. Semkova, X. Du, 2019, Clinical and experimental dermatology.

Broad-spectrum abnormal localized photosensitivity syndrome

S. Ibbotson, H. Fassihi, R. Dawe, 2020, Journal of the American Academy of Dermatology.

Transcription restores DNA repair to heterochromatin, determining regional mutation rates in cancer genomes.

Jeffrey B. Cheng, Nicholas J. Wang, P. Spellman, 2014, Cell reports.

Retrospective study of efficacy and adverse events of immune checkpoint inhibitors in 22 xeroderma pigmentosum patients with metastatic or unresectable cancers

Sikandar G. Khan, H. Fassihi, D. Tamura, 2023, Frontiers in oncology.

Kindler syndrome: a new mutation and new diagnostic possibilities.

J. McGrath, H. Fassihi, J. Fitzpatrick, 2006, Archives of dermatology.

Skin cancer induction by the antimycotic drug voriconazole is caused by impaired DNA damage detection due to chromatin compaction.

H. Fassihi, J. Marteijn, Y. Kamenisch, 2024, The Journal of investigative dermatology.

Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression

D. Langbehn, H. Garcia-Moreno, H. Fassihi, 2023, Brain : a journal of neurology.